RGD:11592977 Rat Genome Database

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Variant: RGD:11592977 -  Homo sapiens

RGD ID: 11592977
RS ID: rs567983446
ClinVar ID: CV283283
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC129930772  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 76,190,381
GRCh38 1 75,724,696
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_007045.2:g.5339A>G
NC_000001.11:g.75724696A>G
NC_000001.10:g.76190381A>G
NM_000016.4:c.-92A>G
More... 		06/14/2016 5 prime utr variant uncertain significance infancy 1-5 / 10 000 CARNITINE DEFICIENCY SECONDARY TO MEDIUM-CHAIN ACYL-CoA DEHYDROGENASE DEFICIENCY; MCADD; Medium chain acyl-CoA dehydrogenase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000344343 CLINVAR
dbSNP (RS) rs567983446 CLINVAR
MedGen C0220710 CLINVAR
NCBI Gene ACADM CLINVAR
  LOC129930772 CLINVAR
OMIM 201450 CLINVAR
  607008 CLINVAR
SNOMED CT 128596003 CLINVAR